Arkless–Graham Syndrome

Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Arkless–Graham syndrome is a very rare genetic condition. It affects how bones grow, especially the small bones of the hands, feet, and face. Children are born with it. Many have short fingers and toes, a small up-turned nose, underdeveloped mid-face bones, short height, and learning or developmental delays. Some people also have “hormone resistance.” This means their body does not respond normally to certain hormones, most often thyroid-stimulating hormone (TSH) and parathyroid hormone (PTH). Doctors see special changes on X-rays, such as cone-shaped growth plates at the ends of finger bones and “advanced bone age.” The condition is usually caused by a change (variant) in one of two genes: PRKAR1A or PDE4D. It often happens for the first time in a family (a new, “de novo” change), but it can also be inherited in an autosomal dominant pattern. MedlinePlusNational Organization for Rare DisordersGARD Information CenterRare Awareness Rare Education Portal

Doctors and radiologists have described consistent facial features: a small, broad, up-turned nose with a flat nasal bridge, midface underdevelopment, a relatively prominent lower jaw, and a short head from front to back (brachycephaly). Hands and feet are small and stubby (brachydactyly). Short stature and early bone maturation are common. MH MedicalAccessAnesthesiologyWikipedia

Hormone resistance is linked to how these genes control the cAMP/PKA signaling pathway in cells, which sits downstream of many hormone receptors. Resistance is most often to TSH and PTH, but other hormones can be involved. GARD Information CenterPMC

Other names

Arkless–Graham syndrome has several well-recognized synonyms:

  • Acrodysostosis (most common medical name)

  • Maroteaux–Malamut syndrome

  • Acrodysplasia (used less often)

These names all refer to the same clinical picture. WikipediaRadiopaediaOrpha

Types

Doctors group the condition into two genetic “types,” based on the gene involved:

  1. Type 1 (PRKAR1A-related acrodysostosis).
    People with PRKAR1A variants often have more obvious hormone resistance, especially to TSH and PTH. The skeleton and face show the typical acrodysostosis changes. GARD Information CenterRare Awareness Rare Education Portal

  2. Type 2 (PDE4D-related acrodysostosis).
    People with PDE4D variants often have more marked facial and skeletal features. Learning and developmental difficulties can occur. Hormone resistance is possible but tends to be less prominent than in Type 1. ScienceDirectRare Awareness Rare Education Portal

Both types are autosomal dominant. Many cases are new (de novo) in the child, with unaffected parents. GARD Information Center

Causes

Important: The main, proven cause is a harmful change (pathogenic variant) in PRKAR1A or PDE4D. Other items below describe how those gene changes happen, the types of changes, or factors that may influence risk or severity. Items marked “speculative/less certain” reflect what clinicians consider possible contributors or explanations; strong proof may be limited because the condition is very rare.

  1. Pathogenic variants in PRKAR1A (Type 1). These disrupt the regulatory subunit (RIα) of protein kinase A, upsetting cAMP signaling and leading to skeletal and hormone-response problems. (Proven.) GARD Information Center

  2. Pathogenic variants in PDE4D (Type 2). These alter a phosphodiesterase that breaks down cAMP, again disturbing the same signaling pathway. (Proven.) ScienceDirect

  3. Autosomal dominant inheritance. One altered copy of either gene can cause the condition. (Proven.) GARD Information Center

  4. De novo variants. The gene change starts in the egg or sperm or very early embryo, so parents are unaffected. Common in this syndrome. (Proven.) GARD Information Center

  5. Missense variants. A single “letter” change that swaps one amino acid in the protein; common in rare genetic disorders. (Likely/common type.) ScienceDirect

  6. Loss-of-function variants (nonsense/frameshift). These can shorten or inactivate the protein. (Observed in genetic disorders including acrodysostosis.) ScienceDirect

  7. Splice-site variants. They change how RNA is spliced, producing abnormal protein. (Documented mechanism in many rare syndromes.) ScienceDirect

  8. Copy-number changes (small deletions/duplications) involving PRKAR1A/PDE4D. These can remove or add gene material. (Possible in individual cases.) MalaCards

  9. Promoter/enhancer variants. Changes in gene “switches” can alter how much protein is made. (Plausible; rarely proven due to testing limits.) MalaCards

  10. Mosaicism in the child. Not all cells carry the variant; can make features milder or patchy. (Possible.) MalaCards

  11. Gonadal (germline) mosaicism in a parent. A parent appears unaffected but can pass the variant to more than one child. (Possible.) MalaCards

  12. Chromosomal rearrangements disrupting these genes. A breakpoint can interrupt PRKAR1A or PDE4D. (Rare but possible.) MalaCards

  13. Deep intronic variants creating cryptic splice sites. Hidden changes outside usual exons can still mis-splice RNA. (Occasional in rare diseases.) MalaCards

  14. Epigenetic effects on the cAMP/PKA pathway (speculative). DNA methylation or histone changes might modify severity. (Theoretical.) MalaCards

  15. Modifier genes in GPCR/cAMP signaling (speculative). Variants in related pathway genes could change how severe features are. (Theoretical.) MalaCards

  16. Advanced paternal age (general de novo risk factor). Older fathers have a higher baseline chance of new variants in sperm. (General genetics, not syndrome-specific.) MalaCards

  17. Undetected structural variants missed by basic tests. More detailed sequencing can sometimes find them. (Testing limitation.) MalaCards

  18. Post-zygotic variants after fertilization. A random error in early cell divisions produces mosaicism. (Mechanism of some de novo cases.) MalaCards

  19. Environmental factors unmasking hormone resistance (speculative). Illness or iodine imbalance could highlight hormone issues but do not cause the syndrome. (Speculative.) MedlinePlus

  20. Unknown cause (diagnostic “negative” despite clear features). Some patients fit the syndrome but standard testing fails to find a variant, likely due to current test limits. (Recognized in rare diseases.) MalaCards

Common signs and symptoms

  1. Short fingers and toes (brachydactyly). Fingers and toes look stubby because the small bones are short. This is a hallmark sign. National Organization for Rare Disorders

  2. Cone-shaped epiphyses on hand/foot X-rays. The growing ends of finger bones look like cones; radiologists see this clearly. Radiopaedia

  3. Small, up-turned nose with flat bridge (nasal hypoplasia). The middle of the face looks underdeveloped. Wikipedia

  4. Midface hypoplasia and facial dysostosis. Cheek and upper-jaw bones are underdeveloped; the lower jaw can look prominent. MH Medical

  5. Short stature. Many children are shorter than peers. AccessAnesthesiology

  6. Advanced bone age. Bones mature faster than expected for the child’s age. Doctors see this on X-rays. PMC

  7. Developmental delay or learning difficulties. Many children need extra help at school. National Organization for Rare Disorders

  8. Hormone resistance (TSH, PTH). Blood tests may look like hypothyroidism or abnormal calcium/phosphate balance, but the gland itself is not the problem—the tissues are less responsive. GARD Information CenterPMC

  9. Brachycephaly (short front-to-back skull). The head shape can look short and broad. MH Medical

  10. Small hands and feet. Often noticed by parents early in life. AccessAnesthesiology

  11. Dental differences and gum overgrowth. Dental crowding or gingival enlargement can occur due to jaw and facial bone changes. BJKines

  12. Hearing problems (some cases). Conductive or mixed issues have been reported. Hearing checks are sensible. SpringerLink

  13. Intrauterine growth restriction (some cases). Some babies are small at birth. Wikipedia

  14. Spine or other skeletal differences. Changes in vertebrae spacing and other skeletal findings may be seen on imaging. PMC

  15. Short neck or limited range in some joints (individual variability). May reflect overall skeletal pattern and early maturation. Radiopaedia

Diagnostic tests

A) Physical examination

  1. General growth and body proportions.
    The doctor measures height, weight, head size, arm-span, and compares them to age charts. Short stature and certain body proportions (short hands/feet) support the diagnosis. MedlinePlus

  2. Hand and foot inspection.
    The clinician looks for visibly short, broad fingers and toes. They also check nails, skin, and joint movement. This directs the need for hand/foot X-rays. National Organization for Rare Disorders

  3. Facial features assessment.
    A small, up-turned nose, flat nasal bridge, midface hypoplasia, and a relatively prominent lower jaw are key clues during a simple exam. Photographs help track growth over time. Wikipedia

  4. Developmental and learning evaluation.
    Basic screening of speech, motor, and cognitive skills flags the need for therapies and educational support. National Organization for Rare Disorders

  5. Thyroid and calcium-related symptom review.
    The clinician asks about fatigue, constipation, cold intolerance (thyroid) or muscle cramps/tingling (calcium), which can suggest hormone resistance and guide lab testing. GARD Information Center

B) Manual tests

  1. Anthropometric hand measurements.
    Measuring finger lengths and palm width helps document brachydactyly and track changes over time. This is simple and bedside-friendly. PMC

  2. Dental and bite (occlusion) examination.
    Manual inspection of teeth, gums, and bite alignment looks for crowding and gingival overgrowth. It guides referral to dentistry or orthodontics. BJKines

  3. Jaw range-of-motion check.
    Opening/closing and side-to-side movements are observed to plan dental care or surgery if needed. (Clinical practice point in craniofacial dysostosis.) MH Medical

  4. Spine flexibility and posture exam.
    The clinician looks for stiffness or curvature that may reflect underlying skeletal changes and decides if spine imaging is needed. PMC

  5. Hearing screening with bedside tools.
    Whisper test or tuning forks can flag possible hearing issues and prompt formal audiology testing. SpringerLink

C) Lab and pathological tests

  1. TSH and free T4.
    In TSH resistance, TSH may be high with a normal or low-normal free T4. This pattern suggests decreased tissue response to thyroid hormone signaling and cues endocrinology referral. GARD Information Center

  2. Serum calcium, phosphate, and PTH.
    In PTH resistance, calcium can be low-normal, phosphate high, and PTH elevated. Rarely, primary hyperparathyroidism has been reported in acrodysostosis, so results must be interpreted carefully. PMC

  3. 25-hydroxy vitamin D.
    Vitamin D status affects calcium/phosphate balance; checking it helps rule out other reasons for abnormal labs. MedlinePlus

  4. Basic metabolic panel and alkaline phosphatase.
    These support evaluation of bone turnover and mineral balance when hormone resistance is suspected. MedlinePlus

  5. Genetic testing (targeted).
    Sequencing PRKAR1A and PDE4D confirms the diagnosis, assigns the type (1 or 2), and guides family counseling and recurrence risk. ScienceDirectRare Awareness Rare Education Portal

  6. Expanded sequencing (exome/panel) if targeted tests are negative.
    This can find unusual variants (deep intronic, copy-number) that basic tests may miss. MalaCards

D) Electrodiagnostic tests

  1. Auditory brainstem response (ABR) if hearing loss is suspected.
    ABR is an objective, electrode-based test that measures the brain’s response to sound and helps distinguish conductive from neural causes. (Used broadly in craniofacial syndromes where hearing issues may occur.) SpringerLink

  2. Electrocardiogram (ECG) only if there are symptoms.
    ECG isn’t routine for this syndrome, but if symptoms like fainting occur, an ECG is a safe screening step to look for unrelated heart rhythm issues. (General clinical practice.)

E) Imaging tests

  1. Hand and foot X-rays.
    This is the key imaging test. It shows short metacarpals and phalanges and the classic cone-shaped epiphyses. Radiopaedia

  2. Bone-age X-ray (left hand/wrist).
    Doctors compare the X-ray to standards to see if bone maturation is advanced for age, which supports the diagnosis. PMC

  3. Skull and facial imaging (X-ray or CT if needed).
    Used to assess midface hypoplasia, jaw relationships, and plan dental/orthodontic care or surgery. MH Medical

  4. Spine radiographs.
    Helpful if there are back symptoms or posture concerns, since some vertebral differences have been reported. PMC

  5. Ears/hearing imaging (temporal bone CT) only for complex hearing issues.
    This is reserved for selected patients to guide ENT care. SpringerLink

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: September 03, 2025.

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References

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